Kawasaki disease

The cause of Kawasaki disease (KD) is unknown. The disease results when cells move into the tissues and buildup there, leading to vascular damage, but what causes the cell buildup in the first place is unknown. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been identified, and the role of genetics is not well understood.^[1][2]

Genetic factors appear to be important to this disorder, as suggested by the increased frequency of the disease in Asian and Asian-American populations and among family members of an affected child. A number of gene variants (polymorphisms) are associated with an increased risk of developing (susceptibility) KD, and some of these variants are also associated with coronary artery lesions and aneurysm formation.[12298]

Other theories suggest that the disease is caused by a response from the body's immune system.^[3]

KD is not contagious; it cannot be passed from one person to another.^[1] Other risk factors include being a male gender, being between six months and five years of age, and having a family history of KD.^[3]

A variation in the ITPKC gene has been associated with an increased risk of developing Kawasaki disease. This gene provides instructions for making an enzyme called inositol 1,4,5-triphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T cells, which identify foreign substances and defend the body against infection. Reducing the activity of T cells when appropriate prevents the overproduction of immune proteins called cytokines that lead to inflammation and can, when present in large quantities, can cause tissue damage. Researchers believe that variations in the ITPKC gene may interfere with the body's ability to reduce T cell activity, leading to inflammation that damages blood vessels and results in the symptoms of this disease. It is likely that other factors, including changes in additional genes, also influence the development of this complex disorder.^[2]

A susceptibility to Kawasaki disease (KD) appears to be passed through generations in families, but the inheritance pattern is unknown. Children of parents who have had KD have twice the risk of developing the disease compared to the general population. Children whose siblings have had KD are ten times more likely to develop KD than the general population^[2], but it is still rare for more than one child in a family to develop the disease.^[4]

Children of parents who have had Kawasaki disease have twice the risk of developing the disorder compared to the general population. Children with affected siblings have a tenfold higher risk.^[2] 

We encourage you to discuss the specific risks for your family with your healthcare provider and/or a genetics professional. 

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.